ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025591
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
644025
ClinVar RCV Id:
RCV000797861
RCV004027937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Glu94Lys
CA366744668
NM_001322014.1:c.280G>A